顔異形

WordNet

of or pertaining to the outside surface of an object
care for the face that usually involves cleansing and massage and the application of cosmetic creams
cranial nerve that supplies facial muscles (同)facial_nerve, nervus_facialis, seventh_cranial_nerve
of or concerning the face; "a facial massage"; "facial hair"; "facial expression"

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顔の;顔用の / (マッサージや化粧品による)顔の手入れ

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/11 05:18:04」(JST)

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Multiple dysmorphic features in a patient with Pitt-Rogers-Danks syndrome: microcephalia, micrognathia and protrusion of the eyeballs

A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals.^[1] Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood.

Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association.^[2] Recognizing the patterns of dysmorphic features is an important part of a geneticist's diagnostic process, as many genetic disease present with a common collection of features.^[1] There are several commercially available databases that allow clinicians to input their observed features in a patient to generate a differential diagnosis.^[1]^[3] These databases are not infallible, as they require on the clinician to provide their own experience, particularly when the observed clinical features are general. A male child with short stature and hypertelorism could have several different disorders, as these findings are not highly specific.^[1] However a finding such as 2,3-toe syndactyly is raises the index of suspicion for Smith-Lemli-Opitz Syndrome^[4]

Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection. They can be divided into groups based on their origin, including malformations (abnormal development), disruptions (damage to previously normal tissue), deformations (damage caused by an outside physical force) and dysplasias (abnormal growth or organization within a tissue).^[1]^[2]

References

^ ^a ^b ^c ^d ^e Reardon, W.; Donnai, D. (2007). "Dysmorphology demystified". Archives of Disease in Childhood - Fetal and Neonatal Edition 92 (3): F225–F229. doi:10.1136/adc.2006.110619. PMC 2675338. PMID 17449858. edit
^ ^a ^b Maitra, Anirban; Kumar, Vinay (2004). "Diseases of Infancy and Childhood". In Kumar, Vinay; Abbas, Abul L.; Fausto, Nelson. Robbins and Coltran Pathologic Basis of Disease (7th ed.). Philadelphia: Elsevier. pp. 469–508. ISBN 978-0-7216-0187-8.
^ j.-p., F.; De Ravel, T. D. (2002). "London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM \Version 3] 2001". Human Genetics 111 (1): 113. doi:10.1007/s00439-002-0759-6. PMID 12136245. edit
^ Nowaczyk, M. J.; Waye, J. S. (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology". Clinical genetics 59 (6): 375–386. doi:10.1034/j.1399-0004.2001.590601.x. PMID 11453964. edit

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1. 頭蓋顔面異常を伴う症候群 syndromes with craniofacial abnormalities
2. 顔面紅斑が認められる患者に対するアプローチ approach to the patient with facial erythema
3. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
4. 側頭動脈生検の手技 temporal artery biopsy technique
5. 成人における顔面外傷 facial trauma in adults

English Journal

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

Nimmo GA1, Guerin A1,2, Badilla-Porras R1, Stavropoulos DJ3, Yoon G1, Carter MT1.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Mar;170(3):712-6. doi: 10.1002/ajmg.a.37483. Epub 2015 Dec 8.
The 16p12 region is particularly prone to genomic disorders due to the large number of low copy repeats [Martin et al., 2004; Nature 432:988-994]. We report two unrelated patients with de novo triplication of 16p12.1p12.3 who had developmental delay and similar facial features. Patient 1 is a 4-year
PMID 26647099

Management of women with epilepsy: from preconception to post-partum.

Laganà AS1, Triolo O2, D'Amico V2, Cartella SM3, Sofo V3, Salmeri FM3, Vrtačnik Bokal E4, Spina E5.
Archives of gynecology and obstetrics.Arch Gynecol Obstet.2016 Mar;293(3):493-503. doi: 10.1007/s00404-015-3968-7. Epub 2015 Nov 30.
PURPOSE: The physiological changes during pregnancy can significantly alter antiepileptic drug (AED)'s absorption, distribution, metabolism and elimination, thus influencing their plasma concentration. Considering that the risks of using old and new AEDs during pregnancy are still debated, our aim i
PMID 26626184

Experiences in palliative home care of infants with life-limiting conditions.

Kuhlen M1, Höll JI2, Sabir H3, Borkhardt A4, Janßen G5.
European journal of pediatrics.Eur J Pediatr.2016 Mar;175(3):321-7. doi: 10.1007/s00431-015-2637-y. Epub 2015 Sep 28.
The aim of this study was to determine the distinct issues neonates/infants with life-limiting conditions and their families face during palliative home care and to enable physicians/caregivers to carefully address their needs. Data on home-based palliative care of all neonates and infants, who were
PMID 26411975

Japanese Journal

A 32-year-old Woman Diagnosed with 22q11.2 Deletion Syndrome and Complicated by Hypothyroidism

, ,
General Medicine 15(1), 72-75, 2014
… 22q11.2 deletion syndrome (22qDS) resulting from a microdeletion of 22q11.2, is usually diagnosed in the postnatal period, and generally manifests as various combinations of cardiac defects, hypoparathyroidism, facial dysmorphism, palate deformity and cellular immunodeficiency. … Pathognomonic facial dysmorphism or short stature can be the key to diagnosis. …
NAID 130004543708

Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

,
Intractable & Rare Diseases Research 3(1), 8-11, 2014
… SD/THEs main features are an intractable diarrhea of infancy associated with hair abnormalities, facial dysmorphism, intra uterine growth restriction and immune deficiency. …
NAID 130003397583

Cerebro-fronto-facial syndrome (Dandy-Walker Variant and Frontofacial Dysmorphisms) : report of the first case identified by increased nuchal translucency beyond 13^<+6> weeks